AutismKB 2.0

Annotation Detail for CSF2RA


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Basic Information Top
Gene Symbol:CSF2RA ( CD116,CDw116,CSF2R,CSF2RAX,CSF2RAY,CSF2RX,CSF2RY,GM-CSF-R-alpha,GMCSFR,GMR,MGC3848,MGC4838 )
Gene Full Name: colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
Band: Xp22.32 and Yp11.3
Quick LinksEntrez ID:1438; OMIM: 306250,425000; Uniprot ID:CSF2R_HUMAN; ENSEMBL ID: ENSG00000198223; HGNC ID: 2435
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus1 / 5640121
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult66 / 193912134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia10 / 95842104
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal56 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood16 / 123478129
bone0 / 716550 
bone marrow3 / 4880161
brain8 / 11009897
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine3 / 23447212
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta36 / 280825128
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach1 / 9661910
testis1 / 3304423
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210340_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.45
Adipocyte6.55
AdrenalCortex8.2
Adrenalgland6.1
Amygdala6.7
Appendix7.7
AtrioventricularNode8.65
BDCA4+_DentriticCells8.8
Bonemarrow7.4
BronchialEpithelialCells6.4
CD105+_Endothelial6.7
CD14+_Monocytes11.95
CD19+_BCells(neg._sel.)7.45
CD33+_Myeloid8.95
CD34+8.15
CD4+_Tcells6.9
CD56+_NKCells7.55
CD71+_EarlyErythroid6.55
CD8+_Tcells6
CardiacMyocytes9.5
Caudatenucleus6.1
Cerebellum5.55
CerebellumPeduncles9.4
CiliaryGanglion8.85
CingulateCortex7.45
Colorectaladenocarcinoma6.3
DorsalRootGanglion6.05
FetalThyroid6.8
Fetalbrain6.65
Fetalliver6.1
Fetallung5.2
GlobusPallidus5.4
Heart9.55
Hypothalamus6.95
Kidney7.6
Leukemia_chronicMyelogenousK-5626.1
Leukemia_promyelocytic-HL-605.95
Leukemialymphoblastic(MOLT-4)5.3
Liver9.75
Lung6.75
Lymphnode5.6
Lymphoma_burkitts(Daudi)9
Lymphoma_burkitts(Raji)9.8
MedullaOblongata8.05
OccipitalLobe6
OlfactoryBulb5.25
Ovary6.2
Pancreas5.55
PancreaticIslet7.35
ParietalLobe7.7
Pituitary8.05
Placenta10.85
Pons12.15
PrefrontalCortex7.95
Prostate7.05
Salivarygland7.45
SkeletalMuscle9.9
Skin8.6
SmoothMuscle7.25
Spinalcord7.45
SubthalamicNucleus9.95
SuperiorCervicalGanglion9.65
TemporalLobe6.55
Testis5.7
TestisGermCell5.6
TestisIntersitial5.8
TestisLeydigCell7.1
TestisSeminiferousTubule6.15
Thalamus11.95
Thymus5
Thyroid7.35
Tongue7.3
Tonsil6.6
Trachea5.9
TrigeminalGanglion8.35
Uterus5.25
UterusCorpus6.8
WholeBlood8.95
Wholebrain5.3
colon6.15
pineal_day7.9
pineal_night7.76
retina8.175
small_intestine6.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13015_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala3.73 ± 1.17
Basal Forebrain3.17 ± 0.65
Basal Part of Pons3.26 ± 1.04
Cerebellar Cortex2.59 ± 0.53
Cerebellar Nuclei3.92 ± 0.97
Claustrum3.63 ± 0.61
Epithalamus3.59 ± 0.75
Frontal Lobe3.08 ± 0.76
Globus Pallidus5 ± 0.4
Hypothalamus3.13 ± 0.99
Insula3.71 ± 0.82
Limbic Lobe3.15 ± 0.78
Mesencephalon3.2 ± 0.81
Myelencephalon3.26 ± 0.75
Occipital Lobe2.86 ± 0.95
Parietal Lobe3.02 ± 0.85
Pontine Tegmentum3.23 ± 0.92
Striatum3.67 ± 0.92
Subthalamus3.33 ± 0.39
Temporal Lobe3.19 ± 0.82
Thalamus3.11 ± 0.65
White Matter5.01 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Csf2raCBCerebellum1.98
3.48
Csf2raCTXCerebral cortex0.91
0.98
Csf2raHIPHippocampal region1.86
2.37
Csf2raHPFHippocampal formation1.94
2.89
Csf2raHYHypothalamus0.25
0.51
Csf2raLSXLateral septal complex0.35
0.87
Csf2raMBMidbrain0.6
1.34
Csf2raMYMedulla0.74
1.13
Csf2raOLFOlfactory bulb2.48
3.45
Csf2raPPons0.59
1.07
Csf2raPALPallidum0.66
0.58
Csf2raRHPRetrohippocampal region2.12
3.71
Csf2rasAMYStriatum-like amygdalar nuclei0.2
0.2
Csf2raSTRStriatum0.39
0.46
Csf2raSTRdStriatum dorsal region0.3
0.39
Csf2raSTRvStriatum ventral region0.94
0.9
Csf2raTHThalamus0.8
1.26
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009623 25 165 189 CPYYIQDSGTHVGCHLDNLSGLTSR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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